Osteogenesis imperfecta (OI) is a rare, heterogeneous disease of connective tissue that affects about 30,000 persons in the United States. The disorder is caused by gene defects responsible for the production of Type I collagen, resulting in defective bone matrix and connective tissue. The primary manifestation of OI is bone fragility; however, the disease may affect virtually all organ systems that contain collagen-rich tissues. Thus, individuals with OI may experience impaired dentition, joint laxity, hearing loss, and a wide range of cardiac problems. There are many unanswered questions about the specific effect of mutated collagen on these tissues, with significant implications for patient care. While the literature offers a wide range of case studies on these problems, the low prevalence of the disease, combined with its genetic variation, means that few papers are based on a population that is sufficiently large to give a clear picture of the risk or range of th varied nonskeletal complications of OI. As a result, little or no guidance is available for the primary care physician or the adult who is faced with addressing the implications of OI on major health questions, such as the appropriate treatment of cardiovascular disease, gastrointestinal diseases, and cancers. Absent centers specializing in the disease, mechanisms to gather the data needed for research are too expensive to give clinicians and researchers the evidence on outcomes they need to guide treatment decisions and facilitate training. Participants in the proposed meeting, Assessing the Impact of Osteogenesis Imperfecta on Nonskeletal Systems, will review current knowledge on how the collagen defects associated with OI affect nonskeletal structures, including the cardiovascular, pulmonary, gastrointestinal, and gynecological systems. Attendees will build on the momentum created by the 2010 Scientific Meeting of the Osteogenesis Imperfecta Foundation (OIF), Improving Musculoskeletal Outcomes for Individuals with Osteogenesis Imperfecta, which was supported in part by an R-13 grant, and by focus groups held at the 2010 OIF Biennial Meeting. The proposed 2012 meeting will mark a major step forward in the identification of areas needing research and of promising targets for new treatments. Attendees, who will include leading OI researchers and clinicians (including representatives of the five OI Linked Clinical Research Centers and other OI clinics), will also develop a strategy for sharing knowledge broadly with clinicians, researchers, parents, and adults with OI. PUBLIC HEALTH RELEVANCE: The best known aspect of osteogenesis imperfecta (OI), a rare disorder of connective tissue, is fragile bones (brittle bones), but OI may also affect a wide range of other organ systems, including the heart, lungs, hearing, vision, and teeth. To date there has been little research on how to treat the varied complications of OI. Assessing the Impact of Osteogenesis Imperfecta on Nonskeletal Systems will bring together leading OI researchers and clinicians, as well as adults living with OI, to review current knowledge regarding the impact of OI on a wide range of bodily systems during the aging process, identify major information gaps, and make recommendations to expand the OI research agenda.